Canonical Allele Identifier: CA1332840193
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227257468_227257472delinsCTCTT , CM000664.2:g.227257468_227257472delinsCTCTT GRCh38
NC_000002.11:g.228122184_228122188delinsCTCTT , CM000664.1:g.228122184_228122188delinsCTCTT GRCh37
NC_000002.10:g.227830428_227830432delinsCTCTT NCBI36
NG_011591.1:g.97904_97908delinsCTCTT , LRG_230:g.97904_97908delinsCTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.988-135_988-131delinsCTCTT (COL4A3) MANE Select ENSP00000379823.3:n.988-135_988-131delinsCTCTT
ENST00000396578.7:c.988-135_988-131delinsCTCTT (COL4A3) ENSP00000379823.3:n.988-135_988-131delinsCTCTT
NM_000091.4:c.988-135_988-131delinsCTCTT , LRG_230t1:c.988-135_988-131delinsCTCTT (COL4A3) NP_000082.2:n.988-135_988-131delinsCTCTT
NR_102371.1:n.1592+1706_1592+1710delinsAAGAG (MFF-DT)
XM_005246276.2:c.988-135_988-131delinsCTCTT (COL4A3) XP_005246333.1:n.988-135_988-131delinsCTCTT
XM_005246277.2:c.988-135_988-131delinsCTCTT (COL4A3) XP_005246334.1:n.988-135_988-131delinsCTCTT
XM_005246280.2:c.988-135_988-131delinsCTCTT (COL4A3) XP_005246337.1:n.988-135_988-131delinsCTCTT
XM_006712245.2:c.988-135_988-131delinsCTCTT (COL4A3) XP_006712308.1:n.988-135_988-131delinsCTCTT
XM_011510555.1:c.988-135_988-131delinsCTCTT (COL4A3) XP_011508857.1:n.988-135_988-131delinsCTCTT
XM_011510556.1:c.-248-135_-248-131delinsCTCTT (COL4A3) XP_011508858.1:n.-248-135_-248-131delinsCTCTT
XR_241280.2:n.1126-135_1126-131delinsCTCTT (COL4A3)
XM_005246277.3:c.988-135_988-131delinsCTCTT (COL4A3) XP_005246334.1:n.988-135_988-131delinsCTCTT
XM_005246280.3:c.988-135_988-131delinsCTCTT (COL4A3) XP_005246337.1:n.988-135_988-131delinsCTCTT
XM_006712245.3:c.988-135_988-131delinsCTCTT (COL4A3) XP_006712308.1:n.988-135_988-131delinsCTCTT
XM_011510556.2:c.-248-135_-248-131delinsCTCTT (COL4A3) XP_011508858.1:n.-248-135_-248-131delinsCTCTT
XM_017003295.1:c.988-135_988-131delinsCTCTT (COL4A3) XP_016858784.1:n.988-135_988-131delinsCTCTT
XR_001738601.1:n.1126-135_1126-131delinsCTCTT (COL4A3)
XR_241280.3:n.1126-135_1126-131delinsCTCTT (COL4A3)
NM_000091.5:c.988-135_988-131delinsCTCTT (COL4A3) MANE Select NP_000082.2:n.988-135_988-131delinsCTCTT